G10V (p.Gly10Val) variant of ATP6V1B1 (P15313)
G10V (p.Gly10Val) in ATP6V1B1 (P15313) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G10V (p.Gly10Val) variant details
- p.Gly10Val
- TOPMed rs879967148
- gnomAD rs879967148
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.16
- CADD 12.50
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available